Variants
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Intellectual disability, autosomal dominant 27

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Description

Coffin-Siris syndrome 9 is characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails (Tsurusaki et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

11

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Genes

External Links

  • OMIM

    615866

  • Orphanet
  • HPO
  • Medgen

    C4014528

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